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57511 COG6

57511

COG6

component of oligomeric golgi complex 6

protein-coding

Homo sapiens

基因描述

Type Description
Definition component of oligomeric golgi complex 6

研究结论

Date Results Publications
2019-03-09 11:32:00 Ptahogenic compound heterozygous variants of the COG6 gene were identified in a neonatal patient. 29709711
2017-06-03 10:19:00 COG6 is a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus. 27193031
2016-09-03 11:05:00 study presents 7 additional patients with 4 novel COG6 mutations; genotype-phenotype correlation can be discerned ranging from deep intronic mutations found in Shaheen syndrome as the mildest form to loss-of-function mutations leading to early lethal congenital disorders of glycosylation phenotypes 26260076
2015-07-25 11:14:00 The aim of this study was to investigate whether the HCP5, TNIP1, TNFAIP3, and COG6 genes were genetic risk factors for psoriasis in Chinese population. 25264125
2015-06-20 13:12:00 Our findings implicate COG6 rs9548934C-->T genotypes and circulating miRNA-1 phenotype in modulating the occurrence and major adverse cardiovascular events of coronary artery disease. 25197382

名称对应

Type IDs
Synonymous CDG2L, COD2, SHNS
Gene
UniProtKB-ID: COG6_HUMAN, A0A140VJG7_HUMAN, A0A024RDW5_HUMAN
UniprotKB: Q9Y2V7, A0A140VJG7, A0A024RDW5
UniParc: UPI0000EE4523, UPI000019271E, UPI0001EC9641
EMBL: BC051723, AB032960, AL512505, CR627406, AF116827, CH471075, HM005354
Ensembl: ENSG00000133103
KO: hsa:57511
Nucleutide sequences
EMBL-CDS: AAH51723.1, AAD29633.1, BAA86448.1, CAH10495.1, EAX08619.1, AEE60954.1, EAX08618.1, EAX08620.1
Gene_ORFName: hCG_32863, hCG_32863
Ensembl_TRS: ENST00000416691, ENST00000455146, ENST00000356576
Protein sequencees
Ensembl_PRO: ENSP00000348983, ENSP00000403733, ENSP00000397441
RefSeq: NP_065802.1, XP_011533470.1, NP_001138551.1
Others
UniRef100: UniRef100_Q9Y2V7, UniRef100_A0A140VJG7
UniRef90: UniRef90_Q9Y2V7
UniRef50: UniRef50_Q9Y2V7
UniGene: Hs.507805
CCDS: CCDS9370.1, CCDS45042.1

全选

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